Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Atay, Zeynep; BEREKET, ABDULLAH; Haliloglu, BELMA; Abali, Saygin; Ozdogan, Tutku; Altuncu, Emel; Canaff, Lucie; Vilaca, Tatiane; Wong, Betty; Cole, David; Hendy, Geoffrey; Turan, SERAP

doi:10.1016/j.bone.2014.04.010

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Atay Z., BEREKET A., Haliloglu B., Abali S., Ozdogan T., Altuncu E., ...Daha Fazla

Bone, cilt.64, ss.102-7, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 64
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.bone.2014.04.010
Dergi Adı: Bone
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.102-7
Anahtar Kelimeler: Neonatal severe hyperparathyroidism, Calcium-sensing receptor, Mutation, Calcimimetic, FAMILIAL HYPOCALCIURIC HYPERCALCEMIA, PAMIDRONATE, RESCUE
Marmara Üniversitesi Adresli: Evet

Özet

Background: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice.